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PubMedDate not supplied

The first German textbook of ophthalmology "Augendienst" by G. Bartisch, 1583.

This book contains various illustrations, portraits and an exact index, testimonials proving the author's professional successes as well as an accurate list of the qualities that should be demanded from any ophthalmologist. The anatomy of the head and eye is described according to Galen's ideas and Vesalius' book. Many remedies, prescriptions and medical treatments are discussed, partly showing the mystic influences of the Middle Ages. Bartisch reports several diseases for the first time: Allergic reactions, sympathetic ophthalmia, hemeralopia, photoelectric keratoconjunctivitis, amaurosis due to toxemia of pregnancy. But most important is the part on surgery. A careful pre- and postoperative treatment is demanded in cases of cataract operations. Bartisch describes the removal of eyelashes to cure trichiasis, the operations of ptosis, blepharochalasis and the exenteration of the orbit. This book was appreciated for a long time so that in 1686 a nearly identical reprint was published.

Books↗
PubMed1984

Distal duplication 14q: report of three cases and further delineation of the syndrome.

Three cases of distal duplication 14q are presented. The first two cases are cousins in a kindred segregating a balanced translocation t(14;18)(q31;q23). The third case resulted from a maternal translocation t(14;18)(q24;p11). By review of these cases and those previously reported, a distal duplication 14q syndrome is further delineated. Common features include postnatal growth retardation, mental retardation, hypotonia, microcephaly, slanted palpebral fissures, ocular hypertelorism, sparse eyelashes and eyebrows, nasal dysmorphism, tented lip, micrognathia, posteriorly rotated ears, and minor skeletal anomalies.

Adult↗
PubMed1976

A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21).

The first child of a mother with a balanced translocation (9;13) revealed a trisomy for the distal third of 13q. Clinical signs were microcephaly, hemangiomata, long incurved eyelashes, strabismus, enlarged bridge of the nose, abnormally long philtrum, high-arched palate, low set ears, hexadactyly of the four extremities, umbilical and inguinal hernias, neonatal respiratory distress, psychomotor and growth retardation. The proband presented also male pseudohermaphroditism and trigonocephaly. This last trait is the object of a discussion in which cases of partial trisomy 13q cited in the literature are considered for study of the incidence of this dyscephaly in this partial syndrome.

Abnormalities, Multiple↗
PubMed1994

Laser ablation of facial cosmetic tattoos.

The application of facial cosmetic tattoos (eyeliner, lipliner, and rouge) has become popular over the past five years and has resulted in an increasing number of patients requesting removal of these permanent cosmetics. Poor positioning or misapplication of the tattoo pigment has been the most common reason for requesting removal. Because of the almost inevitable probability of scarring, removal of these facial tattoos has been difficult at best. We report the successful removal of facial cosmetic tattoos in ten different patients with the use of five different lasers. We have found the superpulsed CO2 laser and the Q-switched alexandrite laser to be effective in removal of black tattoo pigment. The alexandrite laser is effective without causing scarring, and the CO2 laser is extremely precise and provides the capability of removing tattoo pigment between eyelash or eyebrow hairs without damaging the hair follicles. Both the argon laser and the flashlamp pumped dye laser reacted with red tattoo pigment and offered some improvement but were not ideally suited for tattoo removal. However, the flashlamp pumped dye laser for pigment was very effective in removing red tattoo pigment possibly because of its short pulse width (300 ns) in addition to its appropriate wavelength. The combination of these three lasers (super-pulsed CO2, alexandrite, and flashlamp pigment lasers) is very effective in removing black and red (or shades thereof) facial tattoos. Caution must be taken to determine the presence of flesh-colored tattoo pigment, as this pigment (FE2O3) will reduce to black (FeO) upon laser impact.

Adult↗
PubMed1976

Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic suture, long and markedly curved eyelashes, a stubby nose, increased distance between nose and upper lip, high-arched palate, misshapen ears with virtually absent lobules and prominent anthelices which are curved in a sharp angle, and hemangiomata. Features present in 2 cases were microcephaly, long and narrow fingers with convex nails, and hexadactyly. Two cousins were unbalanced offspring of a large family of carriers of a 9/13 translocation, whereas the third case exhibited a 13p+ chromosome which was formed de novo. The clinical features in the 3 patients are typical of the syndrome due to partial trisomy for the distal segment of chromosome 13 which shows selected and mitigated signs of full trisomy 13.

Abnormalities, Multiple↗
PubMed1988

Cornelia de Lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases.

Two cases of Cornelia de Lange syndrome associated with infantile haemangioendothelioma of the liver and Wilms' tumour are reported. The patients showed the characteristic facies of the Cornelia de Lange syndrome, with synophrys, long curly eyelashes and small upturned nose, and physical features, including generalized hirsutism, monodactyly, syndactyly and clinodactyly. Post-mortem examination revealed annular pancreas, patency of the foramen ovale, duodenal atresia and evidence of cytomegalic infection. The cases are reported to document a possible association between malformations and neoplasms in this syndrome.

De Lange Syndrome↗
PubMed1989

Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity.

A boy with sparse red hair, absent eyebrows and eyelashes, cutaneous telangiectasia, poorly developed subcutaneous fat and normocomplementaemic membranoproliferative glomerulonephritis is described. Additional findings were an old-looking, peculiar face, mild developmental delay, calcified choroid plexus and renal arteriolosclerosis. It is believed that this is a new case of a newly recognized entity.

Biopsy↗
PubMed1991

The Floating-Harbor syndrome.

We describe the seventh patient with the Floating-Harbor syndrome. Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of upper lip, dorsally rotated ears, deep nuchal hair line, hirsutism, and clinodactyly of little fingers. She exhibited mental retardation and retarded speech development. Clinical symptoms and differential diagnosis of this rare syndrome are briefly discussed.

Abnormalities, Multiple↗
PubMed1995

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance.

UNLABELLED: The Floating-Harbor syndrome is a growth retardation syndrome with delayed bone age, speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. We present an additional patient and review 16 cases from the literature. The possible phenotype in the patient's mother suggests a dominant mode of inheritance for the syndrome. CONCLUSION: The Floating Harbor syndrome is a growth deficiency syndrome characterized by proportionate short stature, characteristic face and delayed speech development. Inheritance is possibly autosomal dominant.

Age Determination by Skeleton↗
PubMed1992

Induction, maintenance and recovery characteristics of desflurane in infants and children.

To determine the induction and recovery characteristics of the new poly-fluorinated anaesthetic desflurane, 78 fasting and unpremedicated neonates, infants and children up to 12 yr of age were studied. Patients were stratified according to age: full-term neonates less than 28 days of age (n = 12), infants 1-6 mth (n = 12) infants 6-12 mth (n = 15), children 1-3 yr (n = 15), 3-5 yr (n = 12), and 5-12 yr (n = 12). After preoxygenation for two minutes and an awake tracheal intubation, neonates were anaesthetized with stepwise increases in the inspired concentration of desflurane in an air/oxygen mixture. Infants 1-12 mth of age and children were anaesthetized with stepwise increases in the inspired concentration of desflurane in oxygen. Their tracheas were intubated under deep desflurane anaesthesia without muscle relaxation. The incidence of airway reflex responses (including breathholding, coughing, laryngospasm, bronchospasm and oropharyngeal secretions), incidence of excitement, minimum arterial oxygen saturation, and times to loss of eyelash reflex and tracheal intubation during induction were recorded. After skin incision, anaesthesia was maintained with desflurane (approximately 1 MAC) in 60% nitrous oxide and oxygen. Heart rate and systolic arterial pressure were recorded awake, at approximately 1 MAC before and after skin incision and throughout surgery. At the completion of surgery, all anaesthetics were discontinued and the lungs were ventilated with 100% oxygen. During emergence, the end-tidal concentration of desflurane was recorded until extubation. The incidence of airway reflex responses and the times to eye opening and extubation after the discontinuation of desflurane were recorded.(ABSTRACT TRUNCATED AT 250 WORDS)

Anesthesia Recovery Period↗
PubMed1996

Optimal dose of thiamylal in combination with midazolam for induction of anaesthesia.

PURPOSE: The optimal dose range of thiamylal, combined with midazolam, in the induction of anaesthesia was evaluated using haemodynamic variables. METHODS: The 200 patients, aged 30 to 70 yr, were randomly divided into five groups by midazolam dosage. Anaesthesia was induced with midazolam 0.05, 0.075, 0.10, 0.15, or 0.20 mg.kg-1. Two minutes later, 50 mg thiamylal was administered followed by 25 mg increments until verbal response and eyelash reflex disappeared and blood pressure decreased to a level less than that of preinduction. Tracheal intubation was performed with 0.15 mg.kg-1 vecuronium. Blood pressure and heart rate were monitored during induction. Optimal induction was defined as a systolic blood pressure one minute after intubation within +/- 20% of that before induction. RESULTS: There were 164 patients whose systolic blood pressure were within these criteria. Blood pressure decreased two minutes after induction and 3 to 15 min after intubation in all groups. Heart rate increased one minute after intubation in 0.05 mg.kg-1, 0.075 mg.kg-1 and 0.10 mg.kg-1 midazolam groups. The optimal range of thiamylal was 4.0 +/- 1.1 (mean + SD), 3.1 +/- 1.2, 2.8 +/- 1.1, 2.3 +/- 1.2, and 1.7 +/- 1.0 mg.kg-1 in combination with midazolam 0.05, 0.075, 0.10, 0.15, and 0.20 mg.kg-1, respectively. CONCLUSION: The optimal dose range, to maintain haemodynamic stability, for thiamylal induction of anaesthesia in combination with midazolam, 0.05-0.2 mg.kg-1 was found to range from 4.0 to 1.7 mg.kg-1.

Adult↗
PubMed1999

Oral clonidine premedication reduces induction dose and prolongs awakening time from propofol-nitrous oxide anesthesia.

PURPOSE: To evaluate whether oral clonidine premedication affects the induction dose of propofol and awakening time from epidural and propofol anesthesia. METHODS: Thirty-nine female patients (ASA I or II) were randomly allocated to receive 5 microg x kg(-1) clonidine p.o. or no clonidine 90 min before induction of anesthesia. After epidural anesthesia was achieved with lidocaine, general anesthesia was induced with continuous i.v. infusion of propofol at a rate of 50 mg x min(-1) until loss of eyelash reflex and responses to verbal commands, which were judged by a blinded observer. After a laryngeal mask airway was inserted, anesthesia was maintained with N2O 67%, O2 33% and propofol adjusted to maintain hemodynamic stability. After completion of surgery, a blinded observer recorded the time from discontinuance of propofol and N2O until the patient was awake and responsive (awakening time), and then, the laryngeal mask airway was removed. RESULTS: The induction dose of propofol in the clonidine group (1.4 +/- 0.3 mg) was less than that in the control group (1.9 +/- 0.4 mg, P < 0.05), while the awakening time of the clonidine group (470 +/- 145 sec) was longer than that of the control group (329 +/- 123 sec, P < 0.05). CONCLUSION: Premedication with 5 microg x kg(-1) clonidine p.o. reduced the induction dose of propofol, but delayed emergence from propofol anesthesia.

Adrenergic alpha-Agonists↗
PubMed1999

Propofol or sevoflurane for laryngeal mask airway insertion.

PURPOSE: Sevoflurane is a volatile anesthetic agent, which combines rapid, smooth inhalational induction of anesthesia with rapid recovery, making it particularly suitable for day case anesthesia. The laryngeal mask airway is often also used in ambulatory anesthesia, with intravenous propofol being the agent of choice for its insertion. Our objective was to compare the conditions for laryngeal mask airway (LMA) insertion obtained by modified vital capacity breath sevoflurane inhalational induction of anesthesia with propofol intravenous induction. METHODS: Eighty-eight patients, aged 18-65 yr, ASA I-II, undergoing general anesthesia for elective surgery were randomized into two groups in a prospective, single-blind study. Patients in Group P (n=44) received 2.5 mg x kg(-1) propofol i.v. and in Group S (n=44) received sevoflurane 8% in nitrous oxide 50% and oxygen. Ventilation was not assisted. Laryngeal mask airway insertion was attempted at one minute intervals from loss of both verbal response and eyelash reflex, by an anesthesiologist unaware of the induction technique. Complications, such as coughing and head movement, were also noted at each attempt. RESULTS: Mean time to successful LMA insertion was 1.3 (1-3) min in P and 2.2 (1-3) min in S, P < 0.05. Eleven patients in Group P, (25%) required additional propofol compared with four (9%) in S, P < 0.05. Incidence of complications was similar in both groups and by 3 min, LMA was successfully inserted in all patients. CONCLUSION: Modified vital capacity breath inhalational induction with sevoflurane 8% is efficient for LMA insertion in most cases, but takes slightly longer than propofol.

Adolescent↗
PubMed2004

Clear hydro-gel, compared to ointment, provides improved eye comfort after brief surgery.

PURPOSE: Anesthesia impairs lid closure and decreases tear secretion and stability. Protection may, in principle, be conveyed by manual eye closure, taping the eyelids closed, and by instillation of protective substances into the conjunctival sac. Both hydro-gels and ointments are used in clinical practice. It was the objective of the present study to compare a transparent clear ocular hydro-gel (Vidisic) and a commonly used dexpanthenol and vitamin A (Oleovit) based ointment as examples of these classes of ocular lubricants in their capability to provide perioperative eye comfort. Furthermore, their bacteriostatic properties were assessed in vitro. METHODS: Ninety-two consecutive patients undergoing total iv general anesthesia were randomly allocated to receive either ocular dexpanthenol ointment or a clear hydro-gel after induction of anesthesia. Subjects were assessed one hour following termination of anesthesia. RESULTS: Main findings were an increased incidence of foreign body sensation, adherent eyelashes and disturbance elicited by blurred vision in the ointment group as compared to clear hydro-gel (P < 0.001). Bacterial growth was significantly attenuated by the ocular hydro-gel as compared to ointment. DISCUSSION: Clear ocular hydro-gel offers improved patient comfort and decreased ocular inflammation as compared to conventional eye ointments. In addition, it decreases bacterial growth. Therefore, the use of clear ocular hydro-gel for perioperative ocular comfort is suggested.

Acrylates↗
PubMed2003

Endotracheal intubation with a lightwand or a laryngoscope results in similar hemodynamic variations in patients with coronary artery disease.

PURPOSE: To asses the cardiovascular changes after either lightwand or conventional laryngoscopic endotracheal intubation (EI) in patients with coronary artery disease. METHODS: Following Institutional approval and informed consent, 80 consecutive patients undergoing elective coronary artery bypass grafting were enrolled in this prospective, controlled, single-blinded study. General anesthesia was induced with fentanyl 5 micro x kg(-1) and thiopental 5 mg x kg(-1) followed by pancuronium 0.1 mg x kg(-1). After loss-of-eyelash reflex the lungs were manually ventilated with 2% isoflurane in oxygen for five minutes. Patients were then randomly allocated to receive either the lightwand (lightwand group, n = 41) or direct-vision laryngoscopy (laryngoscopy group, n = 39). Heart rate (HR) and direct blood pressure were recorded before induction, after induction but before EI, during EI, immediately after EI and at ten-second intervals for the following five minutes. Hemodynamic management during induction was standardized. Hypotension was treated with volume replacement, ephedrine, or phenylephrine as indicated; hypertension was treated with iv nitroglycerin; tachycardia was treated with boluses of esmolol; and, bradycardia was treated with atropine or ephedrine. RESULTS: In both groups, mean arterial blood pressures and HR increased significantly after EI. There was a tendency for the lightwand group to have lower arterial blood pressures and slower HR. However, the differences between the two groups did not reach statistical significance. Requirements for drugs to control HR and mean arterial pressure were similar in both groups. CONCLUSION: In patients with coronary artery disease using a lightwand intubation technique does not modify the hemodynamic response associated with EI as compared with standard direct-vision laryngoscopy.

Aged↗
PubMed2002

Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome.

We present a 9.1-year-old girl of Calabrian (Italy) ancestry, with clinical features (cranio-facial dysmorphism, short stature with delayed bone age and speech delay) suggesting the diagnosis of Floating-Harbor syndrome (FHS). Physical examination showed: height 113.9 cm (-2.9 SD), with a parent's target of 156.2 cm (+1.0 SD), weight 20.7 kg, BMI 16.0 (-0.04 SD), and many phenotypic abnormalities: long eyelashes, large bulbous nose with broad nasal bridge, short philtrum, moderately broad mouth, tooth folding and malocclusion, posteriorly rotated ears, low posterior hair line, short neck, clinodactyly of the 5th finger and hyperextensible finger joints. Diffused hyperpigmentation and hypertrichosis with sporadic pubic terminal hairs, but neither clitoromegaly nor other signs of hyperandrogenism and/or precocious puberty, were observed (T1, P1). Carpal bone evaluation showed a delayed bone age (TW2: 5-5/10, - 3.6 yr) and the statural age/bone age ratio was 1.1. Other dysmorphic syndromes were excluded on the basis of clinical evidence, also evaluated by a computer-assisted search (P.O.S.S.U.M. version 3.5, 1992). Analysis of chromosome 22 by the FISH method, using specific probes Cos29 and Tuple1, excluded microdeletions in the region 22q11.2, typical of Velo-cardio-facial syndrome. In this case, we report the impairment of serum GH responsiveness (GH baseline values: 0.2-1.9 ng/ml) to the administration of oral 150 microg clonidine [peak 4.7 ng/ml, normal values (nv)>10 ng/ml] and oral 4 mg dexamethasone (8.1 ng/ml, nv>10 ng/ml). Moreover, the evaluation of spontaneous 24-h GH secretion (Carmeda AB, Stockholm, Sweden) showed low mean GH levels (1.75 ng/ml, nv>3.0 ng/ml), with a maximum sleep-related peak of 2.8 ng/ml. Serum IGF-1 values were in the low-normal range (80-176 ng/ml, nv 133-626 ng/ml). While in FHS the cranio-facial features minimize with advancement of age, the impairment of growth velocity is permanent and results in severe dwarfism. In our case, treatment with recombinant GH (0.10 U/kg/day), administered by a needle-free device, induced a dramatic increase of growth velocity, increasing the height from -2.8 to -1.9 SD after 18 months, thus indirectly confirming a role of GH deficiency in the pathogenesis of FHS dwarfism.

Abnormalities, Multiple↗
PubMed2004

[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment].

The Niikawa-Kuroki syndrome is a rare syndrome characterized by multiple congenital anomalies, mental retardation, postnatal growth deficiency, dermatoglyphic abnormalities and a characteristic facial appearance. More than 100 cases of the syndrome have been described in Europe. Here we report a 10 year old girl with this syndrome. Recurrent infections of the middle ear as well as delayed motor and speech development were present. The physiognomy since early infancy showed a flat profil, long palpebral fissures, long eyelashes, high arched eyebrows, missing lateral incisors and persistent fetal pads on the fingers. The patient was referred to us because of hearing impairment. Her parents also described a delayed motor development, mental retardation and a language impairment. Audiometry demonstrated a pantonal hearing loss. Since children affected by this syndrome may also have a severe hearing impairment early testing is mandatory.

Abnormalities, Multiple↗
PubMedDate not supplied

Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome.

We report a female newborn with Johanson-Blizzard syndrome associated with extreme intrauterine growth retardation, aged facial appearance, and atrial septal defect. Other features are microcephaly, prominent veins over the scalp, alopecia over the vertex, wide-open fontanelle, high forehead, antimongoloid slant, edematous eyelids, the absence of eyebrows and eyelashes, beaked nose with alae nasi, low-set ears, thin lips, and micrognathia. Investigations revealed deafness and congenital hypothyroidism. We believe that this association of severe intrauterine growth retardation and congenital heart disease represents the components of this syndrome.

Congenital Hypothyroidism↗